CBS and osteopetrosis: In the CLCs, mutations in or near the CBS domains alter channel gating and are associated with human disease, including myotonia, Dent’s disease, Bartter syndrome, osteopetrosis, leukoencephalopathy, retinal degeneration, lysosomal storage disease, and neurodevelopmental disorders (Estévez et al., 2004; Giorgio et al., 2017; Jentsch and Pusch, 2018; Guo et al., 2019; Nicoli et al., 2019; Altamura et al., 2020; Gianesello et al., 2020; Duncan et al., 2021; Zifarelli, 2022; Palmer et al., 2023; Xu et al., 2023).